developmental and epileptic encephalopathy 108
MONDO:0859314Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 108 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Epileptic encephalopathyHPOHP:0200134
- 11 of 11 reported patients
- Intellectual disabilityHPOHP:0001249
- 11 of 11 reported patients
- Small pituitary glandHPOHP:0012506
- 4 of 5 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 7 of 11 reported patients
- Thin corpus callosumHPOHP:0033725
- 3 of 5 reported patients
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 6 of 11 reported patients
- Tonic seizureHPOHP:0032792
- 6 of 11 reported patients
- Atonic seizureHPOHP:0010819
- 5 of 11 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 5 of 11 reported patients
- Myoclonic seizureHPOHP:0032794
- 5 of 11 reported patients
- Convulsive status epilepticusHPOHP:0032660
- 2 of 11 reported patients
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 1 of 11 reported patients
Show the remaining 1
- Focal motor status epilepticusHPOHP:0032663
- 1 of 11 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MAST3HGNC:19036
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025